Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.L240fs
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SDHB

NM_003000.3:p.L240fs

Associated Papers

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?

Gruber LM et al.

Endocrine Oncology (bristol, England), 2023

37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Truncating_Variants

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

Ben Aim L et al.

Journal of Medical Genetics, 2022

A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.

Maier-Woelfle M et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Hereditary paraganglioma targets diverse paraganglia.

Baysal BE

Journal of Medical Genetics, 2002

Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene.

Young AL et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."